Gene: TMEM126B
Alternate names for this Gene: HT007|MC1DN29
Gene Summary: This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9.
Gene is located in Chromosome: 11
Location in Chromosome : 11q14.1
Description of this Gene: transmembrane protein 126B
Type of Gene: protein-coding
rs886037835 in
TMEM126B gene and
Mitochondrial Diseases
PMID 27374774 2016 Here, we describe the clinical, biochemical, and molecular findings in six cases of mitochondrial disease from four unrelated families affected by biallelic (c.635G>T [p.Gly212Val] and/or c.401delA [p.Asn134Ilefs(∗)2]) TMEM126B variants.